GM10810
LCL from B-Lymphocyte
Description:
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Alternate IDs |
GM17055 [ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED] |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Race
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Asian
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Ethnicity
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JAPANESE
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| adenine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.7; 25% activity. |
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| Remarks |
Japanese; type II APRT deficiency; 2,8dihydroxyadenine urolithiasis with homozygosity for a mutant form of APRT; approximately 25% of normal APRT activity in lymphoid culture |
| Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH, Polymorphisms associated with the DAZ genes on the human Y chromosome Genomics86:431-8 2005 |
| PubMed ID: 16085382 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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